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Thyroid hemiagenesis

ORPHA:95719 · Morphological anomaly · Disorder

HPO 表現型（共 27 項）

Obligate (100%)(1)

  • Thyroid hemiagenesisHP:0011780

Very frequent (99-80%)(14)

  • Abdominal distentionHP:0003270
  • Abnormality of the faceHP:0000271
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • FatigueHP:0012378
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypersomniaHP:0100786
  • HypotoniaHP:0001252
  • JaundiceHP:0000952
  • Large fontanellesHP:0000239
  • MacroglossiaHP:0000158
  • Thyroid agenesisHP:0008191
  • Umbilical herniaHP:0001537

Frequent (79-30%)(7)

  • Anti-thyroglobulin antibody positivityHP:0032069
  • Anti-thyroid peroxidase antibody positivityHP:0025379
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • Hashimoto thyroiditisHP:0000872
  • Increased circulating free T3HP:0011788
  • Thyroid adenomaHP:0000854
  • Thyroid noduleHP:0025388

Occasional (29-5%)(3)

  • Graves diseaseHP:0100647
  • HyperparathyroidismHP:0000843
  • Papillary thyroid carcinomaHP:0002895

Very rare (<4-1%)(2)

  • Follicular thyroid carcinomaHP:0006731
  • Medullary thyroid carcinomaHP:0002865